Disease Browser            Parent Node: mitochondrial complex deficiency (MONDO:0000066) Parent Node: mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes (MONDO:0017718) ..Starting node ..mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ()        Child Nodes:  Sister Nodes:  ..3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ()    L: 00484; ..Bjornstad syndrome ()    L: 00084; ..exercise intolerance with lactic acidosis () ..fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency () ..fatal multiple mitochondrial dysfunctions syndrome () ..gracile syndrome ()    L: 00104; ..mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ()    L: 00024; ..renal tubulopathy-encephalopathy-liver failure syndrome () ..severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency ()     MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Could not execute query 3
SELECT t5.Variation_Name, t5.GeneID, t5.GeneSymbol, t5.ClinicalSignificance, t5.dbSNP, t5.RCVaccession, t5.TestedInGTR, t5.PhenotypeIDs, t5.Chromosome, t5.Start, t5.Stop, t5.HGVS_c, t5.HGVS_p, t5.HGVS_g, t5.OtherIDs, t5.Diseases as Disease_ClinVar FROM gb_exome.clinvar_variation_v2_latest as t5 WHERE Assembly ='GRCh37' AND (t5.PhenotypeIDs like '%:614052%' OR t5.otherIDs like '%OMIM Allelic Variant:614052%' ) ORDER by GeneSymbol, t5.ClinicalSignificance LIKE 'Patho%' DESC, t5.ClinicalSignificance LIKE '%likely pathog%' DESC, start <1,start;

Term ID:	13546
Name:	mitochondrial complex V (ATP synthase) deficiency nuclear type 2
Definition:	mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.
Alternative IDs:	614052
ParentIDs:
TreeNumbers:
Synonyms:	3-MGCA type IV (3-MGCA-4) (formerly); encephalocardiomyopathy, mitochondrial, neonatal, due to ATP synthase deficiency; MC5DN2; mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 2; mitochondrial Complex 5 (ATP synthase) deficiency, Tmem70 type; mitochondrial complex V (ATP synthase) de
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: 614052; MSeqDR : 00024;   Genes: TMEM70;